Canonical Allele Identifier: CA2579693213

Gene: C1GALT1C1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.120627177A>T , CM000685.2:g.120627177A>T	GRCh38
NC_000023.10:g.119761032A>T , CM000685.1:g.119761032A>T	GRCh37
NC_000023.9:g.119645060A>T	NCBI36
NG_016219.1:g.7974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304661.6:c.-5-6T>A MANE Select	ENSP00000304364.5:n.-5-6T>A
ENST00000304661.5:c.-5-6T>A	ENSP00000304364.5:n.-5-6T>A
ENST00000371313.2:c.-5-6T>A	ENSP00000360363.2:n.-5-6T>A
NM_001011551.2:c.-5-6T>A	NP_001011551.1:n.-5-6T>A
NM_152692.4:c.-5-6T>A	NP_689905.1:n.-5-6T>A
NM_001011551.3:c.-5-6T>A MANE Select	NP_001011551.1:n.-5-6T>A
NM_152692.5:c.-5-6T>A	NP_689905.1:n.-5-6T>A